Choanal Atresia and Lymphedema-Reference-Cited by-同舟云学术

Choanal Atresia and Lymphedema

Published:1991-08 Issue:8 Volume:100 Page:661-664
ISSN:0003-4894
Container-title:Annals of Otology, Rhinology & Laryngology
language:en
Short-container-title:Ann Otol Rhinol Laryngol

Author:

Borderon Marie L.¹,Har-El Gady¹,Weiss Michael H.¹

Affiliation:

1. New York, New York

Abstract

The coexistence of bilateral bony choanal atresia and lower-extremity lymphedema was observed in a family with several consanguineous marriages. The combination of these two rare anomalies, in a hereditary form, has not been described before.

Publisher

SAGE Publications

Subject

General Medicine,Otorhinolaryngology

Link

http://journals.sagepub.com/doi/pdf/10.1177/000348949110000812

Reference21 articles.

1. Choanal atresia and associated anomalies: the CHARGE association

2. Choanal atresia and its associated anomalies. Further support for the CHARGE Association

3. Choanal atresia and associated anomalies

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1. Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing;Clinical Dysmorphology;2021-01-22

2. Genetic tests in lymphatic vascular malformations and lymphedema;Journal of Medical Genetics;2018-02-09

3. Choanal Atresia-Lymphedema;Evidence-Based Management of Head and Neck Vascular Anomalies;2018

4. A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema;Meta Gene;2017-12

5. Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans;The American Journal of Human Genetics;2010-09